Canonical Allele Identifier: CA124554
Gene: HBG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14989
ClinVar RCV Id: RCV000016129
dbSNP Id: rs35103459
MyVariant Identifiers: chr11:g.5275560G>A (hg19) chr11:g.5254330G>A (hg38)
PubMed: PMID:2470017 PMID:2470018
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5254330G>A , CM000673.2:g.5254330G>A GRCh38
NC_000011.9:g.5275560G>A , CM000673.1:g.5275560G>A GRCh37
NC_000011.8:g.5232136G>A NCBI36
NG_000007.3:g.43286C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000336906.6:c.277C>T MANE Select ENSP00000338082.4:p.His93Tyr
ENST00000380252.6:c.112C>T ENSP00000369602.2:p.His38Tyr
ENST00000642908.1:c.277C>T ENSP00000495346.1:p.His93Tyr
ENST00000647543.1:c.277C>T ENSP00000496470.1:p.His93Tyr
ENST00000336906.4:c.277C>T ENSP00000338082.4:p.His93Tyr
ENST00000380252.5:c.247C>T ENSP00000369602.1:p.His83Tyr
ENST00000380259.6:c.277C>T ENSP00000369609.2:p.His93Tyr
ENST00000444587.1:c.*146C>T ENSP00000488218.1:n.*146C>T
ENST00000620888.4:c.277C>T ENSP00000479637.1:p.His93Tyr
ENST00000624109.1:c.78G>A ENSP00000485458.1:p.Val26=
NM_000184.2:c.277C>T NP_000175.1:p.His93Tyr
NM_000184.3:c.277C>T MANE Select NP_000175.1:p.His93Tyr
Search 100 bp 5'
Search 100 bp 3'